Variant report

Variant	nsv1011313
Chromosome Location	chr3:112098993-112113334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112090607..112092226-chr3:112097134..112099677,2	MCF-7	breast:
2	chr3:111832694..111835578-chr3:112096846..112099201,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091172
2	lnc-BTLA-1	chr3:112100753-112100776	NONHSAT091168
3	lnc-BTLA-1	chr3:112099250-112099670	NONHSAT091173
4	lnc-BTLA-1	chr3:112100753-112100776	NONHSAT091176
5	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091174
6	lnc-BTLA-1	chr3:112100753-112100780	NONHSAT091174
7	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091168
8	lnc-BTLA-1	chr3:112099217-112099448	NONHSAT091176

No data

Extended variants
information (count: 510 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56980412	chr3:112098994-112098995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529303277	chr3:112099010-112099011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149788091	chr3:112099124-112099125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147904494	chr3:112099125-112099126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142165988	chr3:112099141-112099142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6799765	chr3:112099148-112099149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551505126	chr3:112099156-112099157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143824349	chr3:112099165-112099166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144453730	chr3:112099176-112099177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147846194	chr3:112099206-112099207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77980883	chr3:112099222-112099223	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs188487320	chr3:112099249-112099250	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs78655813	chr3:112099261-112099262	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs141468280	chr3:112099271-112099272	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs556330608	chr3:112099307-112099308	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs575929469	chr3:112099308-112099309	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192904297	chr3:112099328-112099329	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111654218	chr3:112099344-112099345	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs578166182	chr3:112099388-112099389	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540529917	chr3:112099405-112099406	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs558788378	chr3:112099408-112099409	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs143613480	chr3:112099431-112099432	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs184767489	chr3:112099455-112099456	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188034907	chr3:112099473-112099474	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs531728011	chr3:112099539-112099540	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150921613	chr3:112099584-112099585	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573273082	chr3:112099590-112099591	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2633597	chr3:112099603-112099604	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115169725	chr3:112099615-112099616	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs547752203	chr3:112099629-112099630	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs9822923	chr3:112099647-112099648	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs376409480	chr3:112099648-112099649	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556418104	chr3:112099680-112099681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112514184	chr3:112099702-112099703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140716227	chr3:112099837-112099838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558482482	chr3:112099896-112099897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547878110	chr3:112099908-112099909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375128175	chr3:112099950-112099951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561569338	chr3:112099956-112099957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571995292	chr3:112100030-112100031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540516079	chr3:112100089-112100090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150101419	chr3:112100155-112100156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572375172	chr3:112100170-112100171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542778323	chr3:112100172-112100173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562946419	chr3:112100191-112100192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112143210	chr3:112100198-112100199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545216907	chr3:112100217-112100218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2971203	chr3:112100239-112100240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs183892179	chr3:112100336-112100337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547695148	chr3:112100346-112100347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
3	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:112094400-112100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
8	chr3:112096600-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:112096600-112099400	Enhancers	Placenta	Placenta
10	chr3:112097000-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:112097000-112103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:112097200-112099400	Enhancers	Hela-S3	cervix
14	chr3:112097200-112101400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:112097200-112101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:112098000-112103800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:112098000-112108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:112098200-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:112098400-112099200	Enhancers	NHEK	skin
21	chr3:112098400-112099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:112098400-112099400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr3:112098400-112099400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:112098400-112099400	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:112098400-112101800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr3:112098400-112103800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:112098400-112108800	Weak transcription	NH-A	brain
28	chr3:112098800-112099800	Weak transcription	Primary B cells from cord blood	blood
29	chr3:112098800-112103600	Weak transcription	Osteobl	bone
30	chr3:112098800-112108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:112098800-112108400	Weak transcription	HMEC	breast
32	chr3:112099200-112099400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:112099400-112099800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:112099400-112100200	Enhancers	Primary B cells from peripheral blood	blood
35	chr3:112099400-112100600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:112099400-112107400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:112099600-112100600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:112099800-112100000	Enhancers	Primary B cells from cord blood	blood
39	chr3:112100200-112101400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:112100200-112101400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:112100600-112102000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:112100600-112102200	Enhancers	Primary hematopoietic stem cells	blood
43	chr3:112101400-112101800	Enhancers	Aorta	Aorta
44	chr3:112101400-112101800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:112101400-112102000	Enhancers	Primary B cells from peripheral blood	blood
46	chr3:112101400-112102600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:112101600-112101800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:112101800-112107000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:112101800-112110000	Weak transcription	Aorta	Aorta
50	chr3:112102000-112104600	Weak transcription	Primary B cells from peripheral blood	blood

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